InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AGL

Summary

InnateDB Protein

IDBP-100455.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AGL

Protein Name

amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase

Synonyms

GDE;

Species

Homo sapiens

Ensembl Protein

ENSP00000355106

InnateDB Gene

IDBG-100451 (AGL)

Protein Structure

UniProt Annotation

Function

Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4- alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6- glucosidase in glycogen degradation.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:17908927}. Note=Under glycogenolytic conditions localizes to the nucleus.

Disease Associations

Glycogen storage disease 3 (GSD3) [MIM:232400]: A metabolic disorder associated with an accumulation of abnormal glycogen with short outer chains. It is clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy. Glycogen storage disease type 3 includes different forms: GSD type 3A patients lack glycogen debrancher enzyme activity in both liver and muscle, while GSD type 3B patients are enzyme-deficient in liver only. In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in GSD type 3C or type 3D, respectively. {ECO:0000269PubMed:10571954}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Liver, kidney and lymphoblastoid cells express predominantly isoform 1; whereas muscle and heart express not only isoform 1, but also muscle-specific isoform mRNAs (isoforms 2, 3 and 4). Isoforms 5 and 6 are present in both liver and muscle.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.

Experimentally validated
Total	23 [view]
Protein-Protein	22 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004133	glycogen debranching enzyme activity
GO:0004134	4-alpha-glucanotransferase activity
GO:0004135	amylo-alpha-1,6-glucosidase activity
GO:0005515	protein binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0005978	glycogen biosynthetic process
GO:0005980	glycogen catabolic process
GO:0006006	glucose metabolic process
GO:0044281	small molecule metabolic process

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0043033	isoamylase complex

Protein Structure and Domains

PDB ID

InterPro

IPR006421 Glycogen debranching enzyme, metazoa
IPR008928 Six-hairpin glycosidase-like
IPR010401 Glycogen debranching enzyme
IPR017853 Glycoside hydrolase, superfamily

PFAM

PF06202

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P35573

PhosphoSite